Detection of mutations in the glycine decarboxylase gene in patients with nonketotic hyperglycinaemia
โ Scribed by Loryn Sellner; Edward Edkins; Lawrence Greed; Barry Lewis
- Book ID
- 116987581
- Publisher
- Elsevier Science
- Year
- 2005
- Tongue
- English
- Weight
- 326 KB
- Volume
- 84
- Category
- Article
- ISSN
- 1096-7192
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We have investigated the molecular lesions of T-protein deficiency causing typical or atypical nonketotic hyperglycinemia (NKH) in two unrelated pedigrees. A patient with typical NKH was identified as being homozygous for a missense mutation in the T-protein gene, a Gto-A transition leading to a Gly